Successful gene therapy in utero for lethal murine hypophosphatasia

Human Gene Therapy

Volumn 23, Issue 4, 2011, Pages 399-406

  Sugano, Hanako ^a   Matsumoto, Tae ^a   Miyake, Koichi ^a   Watanabe, Atsushi ^a   Iijima, Osamu ^a   Migita, Makoto ^a   Narisawa, Sonoko ^b   Millán, José Luis ^b   Fukunaga, Yoshitaka ^a   Shimada, Takashi ^a  

^a NIPPON MEDICAL SCHOOL   (Japan)

^b BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; PARVOVIRUS VECTOR;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DEFECT; BONE MINERALIZATION; CONTROLLED STUDY; DISEASE SEVERITY; DRUG DISTRIBUTION; ENZYME ACTIVITY; FETUS; FOREFOOT; GENE MUTATION; GENE THERAPY; HYPOPHOSPHATASIA; LETHALITY; NEWBORN; NONHUMAN; SURVIVAL; THORAX RADIOGRAPHY; TISSUE DISTRIBUTION; VIRUS GENOME; WEIGHT GAIN;

ALKALINE PHOSPHATASE; ANIMALS; DISEASE MODELS, ANIMAL; FEASIBILITY STUDIES; FEMALE; FETAL THERAPIES; GENETIC THERAPY; HYPOPHOSPHATASIA; MICE; PREGNANCY; UTERUS;

EID: 84860137955     PISSN: 10430342     EISSN: 15577422     Source Type: Journal    
DOI: 10.1089/hum.2011.148     Document Type: Article

References (35)

1. Dolphin, D., Poulson, R., and Avramovi, O. (1986). Vitamin B6 pyridoxal phosphate: Chemical, biochemical and medical aspects. ( John Wiley & Sons, New York).
2. Donsante, A., Miller, D. G., Li, Y., et al. (2007). AAV vector integration sites in mouse hepatocellular carcinoma. Science 317, 477. (Pubitemid 47196106)
3. Fedde, K. N., Blair, L., Silverstein, J., et al. (1999). Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J. Bone Miner. Res. 14, 2015-2026. (Pubitemid 30026950)
4. Foust, K. D., Nurre, E., Montgomery, C. L., et al. (2009). Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes in CNS. Nat. Biotechnol. 27, 59-65.
5. Goseki, M., Oida, S., and Sasaki, S. (1988). Detection of minor immunological differences among human "universal-type" alkaline phosphatases. J. Cell. Biochem. 38, 155-163. (Pubitemid 19017338)
6. Hartvig, P., Lindner, K. J., Bjurling P, et al. (1995). Pyridoxine effect on synthesis rate of serotonin in the monkey brain measured with positron emission tomography. J. Neural Transm. Gen. Sect. 102, 91-97.
7. Herbert, S. P., and Stainier, D. Y. (2011). Molecular control of endothelial cell behaviour during blood vessel morphogenesis. Nat. Rev. Mol. Cell. Biol. 12, 551-564.
8. Hermens, W. T., ter Brake, O., Dijkhuizen, P. A., et al. (1999). Purification of recombinant adeno-associated virus by iodixanol gradient ultracentrifugation allows rapid and reproducible preparation of vector stocks for gene transfer in the nervous system. Hum. Gene Ther. 10, 1885-1891. (Pubitemid 29357694)
9. Iwamoto, N., Watanabe, A., Yamamoto, M., et al. (2009). Global diffuse distribution in the brain and efficient gene delivery to the dorsal root ganglia by intrathecal injection of adenoassociated viral vector serotype 1. J. Gene Med. 11, 498-505.
10. Larson, J. E., Morrow, S. L., Happel, L., et al. (1997). Reversal of cystic fibrosis phenotype in mice by gene therapy in utero. Lancet 349, 619-620. (Pubitemid 27101894)
11. Lee, C. C., Jimenez, D. F., Kohn, D. B., and Tarantal, A. F. (2005). Fetal gene transfer using lentiviral vectors and the potential for germ cell transduction in rhesus monkeys (Macaca mulatta). Hum. Gene Ther. 16, 417-425. (Pubitemid 40647139)
12. Lipshutz, G. S., Flebbe-Rehwaldt, L., and Gaensler, K. M. (2000). Reexpression following readministration of an adenoviral vector in adult mice after initial in utero adenoviral administration. Mol. Ther. 2, 374-380.
13. Matsumoto, T., Miyake, K., Yamamoto, S., et al. (2011). Rescue of severe infantile hypophosphatasia mice by AAV mediated sustained expression of soluble alkaline phosphatase. Hum. Gene Ther. 22, 1355-1364.
14. McKee, M. D., Nakano, Y., Masica, D. L., et al. (2011). Enzyme replacement prevents dental defects in a mouse model of hypophosphatasia. J. Dental Res. 90, 470-476.
15. Mescher, A. L. (2009). Bone. In Junqueira's Basic Histology, 12th ed. (McGraw Hill, New York) pp. 121-139.
16. Millán, J. L., Narisawa, S., Lemire, I., et al. (2008). Enzyme replacement therapy for murine hypophosphatasia. J. Bone Miner. Res. 23, 777-787. (Pubitemid 351768796)
17. Miyake, N., Miyake, K., Yamamoto, M., et al. (2011). Global gene transfer into the CNS after neonatal systemic delivery of single-stranded AAV vectors. Brain Res. 1389, 19-26.
18. Mornet, E. (2007). Hypophosphatasia. Orphanet. J. Rare Dis. 2, 40.
19. Nakamura-Utsunomiya, A., Okada, S., Hara, K., et al. (2010). Clinical characteristics of perinatal lethal hypophosphatasia: A report of 6 cases. Clin. Pediatr. Endocrinol. 19, 7-13.
20. Narisawa, S., Frohlander, N., and Millán, J. L. (1997). Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. Dev. Dyn. 208, 432-446. (Pubitemid 27114295)
21. Negyessy, L., Xiao, J., Kantor, O., et al. (2011). Layer-specific activity of tissue non-specific alkaline phosphatase in the human neocortex. Neuroscience 172, 406-418.
22. Porada, C. D., Park, P. J., Tellez, J., et al. (2005). Male germ-line cells are at risk following direct-injection retroviral-mediated gene transfer in utero. Mol. Ther. 12, 754-762. (Pubitemid 41350157)
23. Recombinant DNA Advisory Committee, National Institutes of Health. (1999). Prenatal gene transfer: Scientific, medical, and ethical issues. Available at http://oba. od. nih. gov/oba/rac/gtpcreport. pdf (accessed December 2011).
24. Roybal, J. L., Endo, M., Zoltick, P. W., and Flake, A. W. (2011). Early gestational gene transfer of IL-10 by systemic administration of lentiviral vector can prevent arthritis in a murine model. Gene Ther. 18, 719-726.
25. Salvetti, A., Oreve, S., Chadeuf, G., et al. (1998). Factors influencing recombinant adeno-associated virus production. Hum. Gene Ther. 9, 695-706. (Pubitemid 28200625)
26. Satoh, N., Murotsuki, A., and Sawai, H. (2009). [The birth prevalence rates for skeletal dysplasia in the registration system of the Japan Forum of Fetal Skeletal Dysplasia] [in Japanese]. J. Jap. Perinat. Neonat. Med. 45, 1005-1007.
27. Schachtner, S. K., Buck, C. A., Bergelson, J. M., and Baldwin, H. S. (1999). Temporally regulated expression patterns following in utero adenovirus-mediated gene transfer. Gene Ther. 6, 1249-1257. (Pubitemid 29359018)
28. Sugiyama, O., Orimo, H., Suzuki, S., et al. (2003). Bone formation following transplantation of genetically modified primary bone marrow stromal cells. J. Orthop. Res. 21, 630-637. (Pubitemid 36758207)
29. Tenenbaum, L., Lehtonen, E., and Monahan, P. E. (2003). Evaluation of risks related to the use of adeno-associated virusbased vectors. Curr. Gene Ther. 3, 545-565.
30. Themis, M, Waddington, S. N., Schmidt, M., et al. (2005). Oncogenesis following delivery of a nonprimate lentiviral gene therapy vector to fetal and neonatalmice. Mol. Ther. 12, 763-771. (Pubitemid 41350158)
31. Waddington, S. N., Buckley, S. M., Nivsarkar, M., et al. (2003). In utero gene transfer of human factor IX to fetal mice can induce postnatal tolerance of the exogenous clotting factor. Blood 101, 1359-1366. (Pubitemid 36182507)
32. Watanabe, A., Karasugi, T., Sawai, H., et al. (2010). Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J. Hum. Genet. 56, 166-168.
33. Whyte, M. P. (2010). Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann. N. Y. Acad. Sci. 1192, 190-200.
34. Yadav, M. C., Lemire, I., Leonard, P., et al. (2011). Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. Bone 49, 250-256.
35. Yamamoto, S., Orimo, H., Matsumoto, T., et al. (2010). Prolonged survival and phenotypic correction of Akp2-/-hypophosphatasia mice by lentiviral gene therapy. J. Bone Miner. Res. 26, 135-142.